In addition to the effect of DUX4, since JAK signaling has important functions in the development of both skeletal muscle and thrombocytes, we propose that this co-occurrence signifies the importance of focusing on the role of the JAK/STAT pathway for FSHD pathophysiology, which can also contribute to the molecular mechanisms of ET. Here, DUX4 is linked to facioscapulohumeral muscular dystrophy.